1例类孟买血型的鉴定及分子机制研究
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摘要
<正>H抗原缺乏表现型是指红细胞上完全或部分缺乏H抗原的稀有表现型。H可以出现或不出现在分泌液中。其中,H缺乏的非分泌型被称为孟买型,其个体红细胞和分泌液中均检测不到ABH抗原,而H缺乏的和H部分缺乏的分泌型被称为类孟买型,红细胞表面缺乏ABH抗原,而在唾液等
To investigate the serological characteristics and molecular mechanism of a para-Bombay phenotype.ABO forward and reverse typing was performed by serological method.ABO genotyping was performed by PCR-SSP method,and the fourth exon of FUT1 gene was amplified.The fourth exon sequence of FUT1 gene was analyzed by PCR-SBT method to determine the mutation position,points and types.The serological method was identified as Bh para-Bombay phenotype,and the ABO genotyping result was BO2.The FUT1 gene sequencing showed that its genotype was h1/h9(h1:nt547-552 deletion AG,h9:nt424 C→T).The FUT1 gene mutation type of this class of Bh para-Bombay phenotype was h1/h9 heterozygous mutation.
To investigate the serological characteristics and molecular mechanism of a para-Bombay phenotype.ABO forward and reverse typing was performed by serological method.ABO genotyping was performed by PCR-SSP method,and the fourth exon of FUT1 gene was amplified.The fourth exon sequence of FUT1 gene was analyzed by PCR-SBT method to determine the mutation position,points and types.The serological method was identified as Bh para-Bombay phenotype,and the ABO genotyping result was BO2.The FUT1 gene sequencing showed that its genotype was h1/h9(h1:nt547-552 deletion AG,h9:nt424 C→T).The FUT1 gene mutation type of this class of Bh para-Bombay phenotype was h1/h9 heterozygous mutation.
引文
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[3]尚红,王毓三,申子瑜,等.全国临床检验操作规程[M].4版.北京:人民卫生出版社,2015:118-123.
[4]周小芹,沈志辉,张乃淙,等.类孟买血型血清学特点及基因突变分析[J].军事医学,2017,41(10):822-824.
[5] Blumenfeld OO,Patnaik SK.Allelic genes of blood group antigens:a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database[J].Human Mutatn,2004,23:8-16.
[2]郭忠慧,向东,朱自严,等.中国类孟买血型FU T1和FU T2基因研究[J].中华医学遗传学杂志,2004,21(5):417-421.
[3]尚红,王毓三,申子瑜,等.全国临床检验操作规程[M].4版.北京:人民卫生出版社,2015:118-123.
[4]周小芹,沈志辉,张乃淙,等.类孟买血型血清学特点及基因突变分析[J].军事医学,2017,41(10):822-824.
[5] Blumenfeld OO,Patnaik SK.Allelic genes of blood group antigens:a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database[J].Human Mutatn,2004,23:8-16.